Mitochondrial Function and Pathology

The paper identifies pathways controlling neurodegeneration and proteostasis in mitochondrial complex I deficiency using a Drosophila model and genetic screens.

The paper identifies a conserved hydrophobic pocket in Miro-GTPases that binds diverse mitochondrial proteins, suggesting Miro as a universal mitochondrial adaptor.

The paper uses CRISPRi and FACS to compare effects of respiratory gene knockdown on ROS and ATP, identifying differential regulators of these processes.

The paper identifies internal mitochondrial targeting signals and a critical residue in TbTim17 necessary for its import and integration into the mitochondrion of Trypanosoma brucei.

This study identifies a mitochondrial carrier in Blastocystis that transports glycolytic intermediates, linking cytosolic and mitochondrial glycolysis and highlighting it as a potential drug target.

This study shows that mitochondrial defects in desmin-mutated cardiomyocytes contribute to cardiomyopathy and can be reversed by transferring normal mitochondria.

This study investigates the structural and functional consequences of NDUFS4 deficiency in a mouse model, revealing impaired complex I assembly and highlighting the role of NDUFAF2 in module recruitment.

This study uses iPSC-derived cortical organoids to model Alpers' disease and shows that nicotinamide riboside improves mitochondrial defects and neuronal loss.

This study demonstrates that mitochondrial transplantation can restore bioenergetics in diseased cells, with metabolic compatibility and mitochondrial activity influencing therapeutic outcomes.

The paper identifies dual regulation of SLC25A39 by AFG3L2 and iron, showing how this controls mitochondrial glutathione homeostasis in neurons.

The paper develops a genetically encoded tool to manipulate mitochondrial membrane potential and shows it drives the integrated stress response from ATP synthase dysfunction.

The paper identifies CLPP-deficiency-induced changes in mitochondrial translation and respiration, linking them to hearing loss in Perrault syndrome type 3.

This study investigates how phosphorylation at S579 and S600 affects Drp1 GTPase activity, showing that S579 phosphorylation reduces actin and cardiolipin stimulation while S600 phosphorylation inhibits these effects.

The paper develops a method to deplete mitochondrial DNA in bronchial epithelial cells and shows the resulting metabolic changes.

The paper quantifies power demand fluctuations in motor nerve terminals and identifies phosphagen systems as critical for ATP buffering during synaptic activity.

This study isolates purified mouse skeletal muscle mitochondria using Percoll density gradient centrifugation and validates their functionality through bioenergetic and proteomic analyses.

The paper identifies genes involved in mitochondrial and nuclear gene regulation for OXPHOS complex synthesis using genome-wide screens and characterizes their roles in mitochondrial RNA abundance and mitoribosome assembly.

The paper identifies a mitofusin 2 mutation (R400Q) that causes mitophagic cardiomyopathy by impairing mitochondrial fusion and Parkin recruitment, distinct from its role in CMT2A.

The paper identifies the molecular mechanism by which human sperm mitochondria lack mtDNA and how TFAM re-localization leads to paternal mtDNA elimination.

The paper elucidates the molecular pathway of mitochondrial preprotein import through the TOM-TIM23 supercomplex using structural and biochemical analyses.

The paper compares multi-omics data from three mouse models of partial frataxin deficiency to assess mitochondrial stress in the heart, finding mild transcriptional changes despite severe FXN reduction.

This study shows that mice with reduced respirasomes maintain normal bioenergetics and physiology, suggesting respirasomes are not essential for basic function but may have other roles.

Blood whole genomes from 274,832 people yield 92 independent nuclear signals for mtDNA copy number and 42 for inherited heteroplasmy levels, implicating mtDNA replication machinery.

The paper identifies N-terminal signatures in yeast proteins that influence mitochondrial import, showing hydrophobic residues at position 2 are critical and conserved across Saccharomycotina yeasts.

The paper optimizes complexome profiling to better study mitochondrial DNA- and RNA-protein interactions, demonstrating improved identification of interactors in human mitochondria with impaired gene expression.

This paper identifies SMDT1 variants that cause EMRE protein absence and impair mitochondrial calcium uptake in patients with muscle involvement.

The paper shows that TCA cycle dysfunction contributes to axonal energy deficiency in neuroinflammatory lesions and that restoring TCA enzymes can alleviate this deficit.

This paper identifies c17orf80 as a mitochondrial membrane protein interacting with nucleoids but not essential for mtDNA maintenance or expression in human cells.

MitoQuicLy quantifies cf-mtDNA in plasma, serum, and saliva with high agreement to column-based methods, showing significant inter-individual and biofluid-specific differences.

The paper investigates the association between mitochondrial variant MT:10398A>G and heteroplasmy in brain tissue and lymphoblastoid cell lines, identifying its role in mitochondrial function and disease phenotypes.